Hurler's syndrome

mucopolysaccharidosis (MPS) type I (aka: gargoylism)

autosomal recessive deficiency of X-L iduronidase
1 in 10000 births
prognosis: death in early teens
dwarfism
mental retardation
kyphosis
long bones are short and thick
phalanges of hands: coarse texture, wide shafts, tapered proximal ends (esp. metacarpals)
hepatosplenomegaly
thick everted lips, large tongue, small malformed teeth
J-shaped sella

Charles E. Kahn, Jr., MD - 2 February 1995
Last updated: 1 October 2013